{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA422661991", "communityStandardTitle": [ "NM_000186.4(CFH):c.921A>G (p.Ala307=)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.196654324A>G?assembly=hg19", "id": "chr1:g.196654324A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1061147", "rs": 1061147 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 196685194, "referenceAllele": "A", "start": 196685193 } ], "hgvs": [ "NC_000001.11:g.196685194A>G", "CM000663.2:g.196685194A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 196654324, "referenceAllele": "A", "start": 196654323 } ], "hgvs": [ "NC_000001.10:g.196654324A>G", "CM000663.1:g.196654324A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 194920947, "referenceAllele": "A", "start": 194920946 } ], "hgvs": [ "NC_000001.9:g.194920947A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "G", "end": 38184, "referenceAllele": "A", "start": 38183 } ], "hgvs": [ "NG_007259.1:g.38184A>G", "LRG_47:g.38184A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000507" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1093, "referenceAllele": "A", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000359637.3:c.729A>G" ], "proteinEffect": { "hgvs": "ENSP00000352658.2:p.Ala243=" }, "referenceSequence": "http://reg.genome.network/refseq/RS904469" }, { "coordinates": [ { "allele": "G", "end": 1187, "referenceAllele": "A", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000470918.2:n.1187A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS905184" }, { "coordinates": [ { "allele": "G", "end": 1065, "referenceAllele": "A", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695968.1:c.738A>G" ], "proteinEffect": { "hgvs": "ENSP00000512295.1:p.Ala246=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907449" }, { "coordinates": [ { "allele": "G", "end": 1187, "referenceAllele": "A", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695969.1:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000512296.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907450" }, { "coordinates": [ { "allele": "G", "end": 1187, "referenceAllele": "A", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695970.1:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000512297.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907451" }, { "coordinates": [ { "allele": "G", "end": 1187, "referenceAllele": "A", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695971.1:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000512298.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907452" }, { "coordinates": [ { "allele": "G", "end": 1187, "referenceAllele": "A", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695972.1:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000512299.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907453" }, { "coordinates": [ { "allele": "G", "end": 1161, "referenceAllele": "A", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695973.1:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000512300.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907454" }, { "coordinates": [ { "allele": "G", "end": 1161, "referenceAllele": "A", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695974.1:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000512301.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907455" }, { "coordinates": [ { "allele": "G", "end": 1141, "referenceAllele": "A", "start": 1140 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695975.1:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000512302.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907456" }, { "coordinates": [ { "allele": "G", "end": 1152, "referenceAllele": "A", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695976.1:c.732A>G" ], "proteinEffect": { "hgvs": "ENSP00000512303.1:p.Ala244=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907457" }, { "coordinates": [ { "allele": "G", "end": 1041, "referenceAllele": "A", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695978.1:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000512304.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907459" }, { "coordinates": [ { "allele": "G", "end": 1041, "referenceAllele": "A", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695979.1:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000512305.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907460" }, { "coordinates": [ { "allele": "G", "end": 1041, "referenceAllele": "A", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695980.1:n.1041A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS907461" }, { "coordinates": [ { "allele": "G", "end": 1041, "referenceAllele": "A", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695981.1:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000512306.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907462" }, { "coordinates": [ { "allele": "G", "end": 1005, "referenceAllele": "A", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695983.1:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000512308.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907463" }, { "coordinates": [ { "allele": "G", "end": 323, "endIntronDirection": "+", "endIntronOffset": 12031, "referenceAllele": "A", "start": 323, "startIntronDirection": "+", "startIntronOffset": 12030 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695984.1:c.244+12031A>G" ], "proteinEffect": { "hgvs": "ENSP00000512309.1:n.244+12031A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS907464" }, { "coordinates": [ { "allele": "G", "end": 1063, "referenceAllele": "A", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695986.1:c.*572A>G" ], "proteinEffect": { "hgvs": "ENSP00000512311.1:n.*572A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS907465" }, { "coordinates": [ { "allele": "G", "end": 1058, "referenceAllele": "A", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000695987.1:c.732A>G" ], "proteinEffect": { "hgvs": "ENSP00000512312.1:p.Ala244=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907466" }, { "coordinates": [ { "allele": "G", "end": 1005, "referenceAllele": "A", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696018.1:n.1005A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS907495" }, { "coordinates": [ { "allele": "G", "end": 1005, "referenceAllele": "A", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696019.1:n.1005A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS907496" }, { "coordinates": [ { "allele": "G", "end": 1005, "referenceAllele": "A", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696020.1:n.1005A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS907497" }, { "coordinates": [ { "allele": "G", "end": 1005, "referenceAllele": "A", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696021.1:n.1005A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS907498" }, { "coordinates": [ { "allele": "G", "end": 1005, "referenceAllele": "A", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696022.1:n.1005A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS907499" }, { "coordinates": [ { "allele": "G", "end": 1005, "referenceAllele": "A", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696023.1:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000512334.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907500" }, { "coordinates": [ { "allele": "G", "end": 1005, "referenceAllele": "A", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696024.1:n.1005A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS907501" }, { "coordinates": [ { "allele": "G", "end": 1005, "referenceAllele": "A", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696025.1:n.1005A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS907502" }, { "coordinates": [ { "allele": "G", "end": 1005, "referenceAllele": "A", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696026.1:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000512335.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907503" }, { "coordinates": [ { "allele": "G", "end": 1005, "referenceAllele": "A", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696027.1:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000512336.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907504" }, { "coordinates": [ { "allele": "G", "end": 1005, "referenceAllele": "A", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696028.1:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000512337.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907505" }, { "coordinates": [ { "allele": "G", "end": 1005, "referenceAllele": "A", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696029.1:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000512338.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907506" }, { "coordinates": [ { "allele": "G", "end": 996, "referenceAllele": "A", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696030.1:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000512339.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907507" }, { "coordinates": [ { "allele": "G", "end": 1129, "referenceAllele": "A", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000696031.1:c.*439A>G" ], "proteinEffect": { "hgvs": "ENSP00000512340.1:n.*439A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS907508" }, { "coordinates": [ { "allele": "G", "end": 1187, "referenceAllele": "A", "start": 1186 } ], "hgvs": [ "ENST00000696032.1:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000512341.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907509" }, { "coordinates": [ { "allele": "G", "end": 1149, "referenceAllele": "A", "start": 1148 } ], "hgvs": [ "ENST00000696033.1:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000512342.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS907510" }, { "coordinates": [ { "allele": "G", "end": 996, "referenceAllele": "A", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000367429.9:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000356399.4:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS750010", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367429.9:c.921A>G" }, "RefSeq": { "hgvs": "NM_000186.4:c.921A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356399.4:p.Ala307=" }, "RefSeq": { "hgvs": "NP_000177.2:p.Ala307=" } } } }, { "coordinates": [ { "allele": "G", "end": 791, "referenceAllele": "A", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000359637.2:c.729A>G" ], "proteinEffect": { "hgvs": "ENSP00000352658.2:p.Ala243=" }, "referenceSequence": "http://reg.genome.network/refseq/RS264855" }, { "coordinates": [ { "allele": "G", "end": 1161, "referenceAllele": "A", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000367429.8:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000356399.4:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS266382" }, { "coordinates": [ { "allele": "G", "end": 2937, "referenceAllele": "A", "start": 2936 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000466229.5:n.2937A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS309651" }, { "coordinates": [ { "allele": "G", "end": 994, "referenceAllele": "A", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "ENST00000630130.2:c.921A>G" ], "proteinEffect": { "hgvs": "ENSP00000487250.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS407325" }, { "@id": "http://reg.genome.network/allele/PA2825096459", "coordinates": [ { "allele": "G", "end": 1161, "referenceAllele": "A", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "NM_000186.3:c.921A>G", "LRG_47t1:c.921A>G" ], "proteinEffect": { "hgvs": "NP_000177.2:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006248" }, { "@id": "http://reg.genome.network/allele/PA2825311451", "coordinates": [ { "allele": "G", "end": 1161, "referenceAllele": "A", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "NM_001014975.2:c.921A>G" ], "proteinEffect": { "hgvs": "NP_001014975.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS008510" }, { "coordinates": [ { "allele": "G", "end": 1006, "referenceAllele": "A", "start": 1005 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "XM_017001108.2:c.921A>G" ], "proteinEffect": { "hgvs": "XP_016856597.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS557339" }, { "coordinates": [ { "allele": "G", "end": 1006, "referenceAllele": "A", "start": 1005 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "XR_001737134.2:n.1006A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS587951" }, { "@id": "http://reg.genome.network/allele/PA2825096459", "coordinates": [ { "allele": "G", "end": 996, "referenceAllele": "A", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "NM_000186.4:c.921A>G" ], "proteinEffect": { "hgvs": "NP_000177.2:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS674740", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367429.9:c.921A>G" }, "RefSeq": { "hgvs": "NM_000186.4:c.921A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356399.4:p.Ala307=" }, "RefSeq": { "hgvs": "NP_000177.2:p.Ala307=" } } } }, { "@id": "http://reg.genome.network/allele/PA2825311451", "coordinates": [ { "allele": "G", "end": 996, "referenceAllele": "A", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN004883", "geneNCBI_id": 3075, "geneSymbol": "CFH", "hgvs": [ "NM_001014975.3:c.921A>G" ], "proteinEffect": { "hgvs": "NP_001014975.1:p.Ala307=" }, "referenceSequence": "http://reg.genome.network/refseq/RS711362" } ], "type": "nucleotide" }